Abstract
This study adopts a heuristic technique to argue the thesis that a set of norms rooted in the African philosophy of Ubuntu can usefully supplement current research guidelines for dealing with incidental findings discovered in genomic research. The consensus regarding incidental findings is that there is an ethical obligation to return individual genetic incidental findings that meet the threshold of analytic and clinical validity, have clinical utility, and are actionable, provided that research contributors have not opted out from receiving such information. This study outlines the hurdles that may hinder the integration of this consensus in mainstream clinical practice, and shows how an ethical theory from the global south may be used to address the same. This will advance the field of ethical, legal and social issues of personalized medicine by providing exposure to the under-represented African perspective on the ethical, legal, and social issues of genomics.
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Notes
That is, the right drug/ treatment for the right patient, at the right dose, and at the right time.
There is not yet a legal obligation for researchers to return incidental findings which meet the outlined threshold.
IFs must be differentiated from individual research results and aggregate research results, both of which often fall within research objective and may have clinical and/or personal significances. Aggregate research results are general results drawn from samples of a group and concerns the group, while individual research result concerns an individual. The current debate largely focuses on the disclosure of IFs and the decisions about returning individual and aggregate research results dependly greatly on the agreement—usually stated on the consent form—between researchers and contributor/community; the type of study, relevant research guidelines, clinical relevance of result and the ethical approval. Also note that an IF may have one of the following clinical significances:1. clinically actionable—one is at a risk for a future preventable or manageable health problem or already has a health problem for which a clinical action is available; 2. not-clinically actionable—clinical action is not available or no clinical implication; and 3. no-known clinical significance, that is the implication for one’s health is at the moment unknown (Issues 2013; Pike et al. 2013, p. 4).
Analytic validity refers to the reliability and accuracy of the test or the "capacity of the test to measure the characteristic it is designed to identify" (Thorogood et al. 2014, p. 8.). Clincal validity refers tothe accuracy with which the test predicts the condition. A mere a mere suspicion of a disease does not pass this criterion. Analytic and clinical validity significantly reduces the likelihood of false positive findings. Validation also need to be undertaken in laboratories optimized for clinical care.
If finding has an implication for one's health or that of one's offspring or reveals an established disease-causing pathogenic variants, or the probability of a serious treatable condition occuring is high. For example, IFs which reveals a brain tumor.
A condition for which a clinical intervention/treatment exists; or for which benefits associated with communication outweighs the risk of harm. Misattributed paternity, for example, has no clinical intervention, hence, it is not clinically actionable. But a predisposition to treatable breast cancer is clinically actionable.
Usually a pre-defined list of 59 genes where most pathogenic variants are “known” to be associated with certain types of cancer and cardiac conditions.
In a previous publication (Ewuoso 2019b), I asserted the heterogeneity of “African ethics” in general, and Ubuntu in particular, in sub-Saharan Africa. I shall do the same here in this article. For example, the intrinsic wrongness of lying in Kantian ethics has no parallel in the Ubuntu ethical system as a whole. This remains an open question rather than one settled a priori as in Kantian ethics.
Clinically validation of incidental findings in genomic research does not negate their probabilistic nature generally. A validated finding simply means that it is confirmed, and less likely to be a false positive, that someone has a predisposition to a life-threatening disesease or could develop a condition owing to the presence of a pathogenic variant. But validation does not imply that they will certainly develop the condition in the future. For example, an individual with an increased risk of breast cancer owing to the presence of a variant of the breast cancer type 1 gene, may never live long enough to have the disease. This is in this sense in which most published studies have used the phrase probabilistic findings in relation to IFs in genomic research. I also find Sullivan and Berkmans’ (2018, p. 23) explanation on this issue very apt. According to them, “genetic findings are probabilistic, and disorders may not manifest for years. Because genes interact with other genes, the environment, and behavior, the development of a particular disease or phenotype is not certain or immediate.”.
The rescue principle requires individuals to take reasonable steps to help those in life-threatening situation, provided that such rescue is necessary, and does not come at a significant risk of harm to themselves; is likely to succeed; and the benefit to the victim outweighs likely harm to the helper. To this end, a researcher acts ethically when s/he returns a significant IF to consenting individual contributors who have a predisposition to a life-threatening disease owing to the presence of a pathogenic variant.
I note here that an equally compelling counter-argument may also be advanced. One may argue for example, that returning IFs about misattributed paternity will constitute a violation of one’s right not to know. This is why the discussion regarding whether to return IFs to participants generates a dilemma.
I note here that there are other sources of obligations beyond what is specified in the consent form, such as the primary duty to promote communal relationship or the partial-entrustment mode of Belsky and Richardson (2004).
One may argue that based on the duty to rescue, an obligation to research participants persists beyond the grant period. In response I answer that a duty to rescue will exist if the cost of rescue does not come at a significant cost to the researcher/research team. Ubuntu philosophy complements the rescue principle by providing clarification on how to weigh obligations and assess cost. As I argued in the article, Ubuntu philosophy is not an impartial philosophy. In this philosophy (as pointed out on page19),long-standing on-going relationships have moral importance over present relationships that may not be longstanding; and current or existing relationships have moral importance over future relationships or a previous relationship that was terminated in the past. A researcher may not be burdened to provide for the cost of paying for the validation of an IFs of a past participant if this would undermine his ability to fulfill his/her obligation towards current research participants or to the research project itself. The researcher should, however, pay for this validation if this will not jeopardize his/her more pressing obligations.
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Acknowledgements
The author would like to thank Prof Thaddeus Metz and the two reviewers for their critical comments. The author is also grateful to the James F. Drane Institute of Bioethics, Edinboro University of Pennsylvania for the research support which contributed greatly to the completion of this article.
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Ewuoso, C. Ubuntu philosophy and the consensus regarding incidental findings in genomic research: a heuristic approach. Med Health Care and Philos 23, 433–444 (2020). https://doi.org/10.1007/s11019-020-09953-4
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DOI: https://doi.org/10.1007/s11019-020-09953-4